NIH R01 · 2025
Regulation of inflammation by the ubiquitin proteasome pathway
Project Summary (<30 lines): VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly identified inflammatory and hematologic disease caused by somatic mutations in UBA1. Individuals with UBA1 mutations have clinical manifestations similar to well-established rheumatic diseases such as rheumatoid arthritis and giant cell arteritis but have unique manifestations including elevated mortality and treatment-refractory disease. 1/14,000 individuals are affected by VEXAS syndrome, and there are no effective treatments due to a limited understanding of pathogenesis. We propose to further the mechanistic understanding of the disease as a first step in developing…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.